Case Report: Compound Heterozygous Variants of SLC13A3 Identified in a Chinese Patient With Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation

• Ngā kaituhi matua: Qingyun Kang (Author), Liming Yang (Author), Hongmei Liao (Author), Sai Yang (Author), Haiyang Yang (Author), Zeshu Ning (Author), Caishi Liao (Author), Liwen Wu (Author)
• Hōputu: Pukapuka
• I whakaputaina: Frontiers Media S.A., 2021-12-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: Connect to this object online.

Background:SLC13A3 gene encodes the Na+/dicarboxylate cotransporter 3 (NaDC3), which locates on the plasma membrane and is mainly expressed in kidney, astrocytes and the choroid plexus. It imports four to six carbon dicarboxylates together with three Na+ ions into the cytosol. Nowadays, pathogenic v...